A1 Refereed original research article in a scientific journal
A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome
Authors: Roosa-Maria Mattila, Annele Sainio, Marketta Järveläinen, Juha Pursiheimo, Hannu Järveläinen
Publication year: 2018
Journal: Acta Ophthalmologica
Journal acronym: Acta Ophthalmol
Volume: 96
Issue: 1
First page : 95
Last page: 99
Number of pages: 5
ISSN: 1755-375X
DOI: https://doi.org/10.1111/aos.13492
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/22574918
ABSTRACT.
Purpose: To present a novel Finnish double nucleotide variant in the ironresponsive
element (IRE) of the ferritin L-chain gene (FTL) leading to
hyperferritinaemia-cataract syndrome (HHCS).
To present a novel Finnish double nucleotide variant in the iron-responsive element (IRE) of the ferritin L-chain gene (FTL) leading to hyperferritinaemia-cataract syndrome (HHCS).
MethodsGenomic DNA extracted from peripheral blood leucocytes and synthetized with three different primers flanking the IRE in the FTL 5′-untranslated region of the FTL was used in polymerase chain reaction (PCR). Thereafter, Sanger sequencing was performed on the 487-bp and 602-bp PCR amplification products with specific primers to reveal FTL IRE mutations.
ResultsA 58-year-old female patient with elevated serum ferritin level (1339 μg/l) was diagnosed with HHCS after extensive workup. Genetic testing identified a novel double point mutation g.48965355G>C (chr19, hg19) and g.48965356G>T (chr19, hg19) in the lower stem region of the IRE canonical structure of the FTL.
ConclusionAfter excluding other causes, elevated serum ferritin level in a person with early onset cataract is indicative for HHCS, a genetic disorder caused by mutation in the IRE of the FTL.
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